Activity
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3 actions
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| Paediatric or syndromic cardiomyopathy v0.16 | DHCR7 | Ivone Leong reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | DHCR7 |
Ivone Leong Source Expert Review Red was added to DHCR7. Source NHS GMS was added to DHCR7. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Paediatric or syndromic cardiomyopathy v0.1 | DHCR7 |
Ivone Leong gene: DHCR7 was added gene: DHCR7 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 27604308 Phenotypes for gene: DHCR7 were set to Cataracts; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities; Intellectual disability |
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